A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210252



Internal ID22358200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58266410..58295356hg38UCSC Ensembl
Outerchr1:58732082..58761028hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3828947
hg1928947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259619, nssv14259617, nssv14259620, nssv14259618, nssv14259622, nssv14259623, nssv14259621
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210252
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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